| Literature DB >> 24189344 |
K Xia1, H Guo2, Z Hu1, G Xun3, L Zuo4, Y Peng1, K Wang5, Y He3, Z Xiong1, L Sun5, Q Pan6, Z Long6, X Zou7, X Li3, W Li6, X Xu6, L Lu6, Y Liu3, Y Hu6, D Tian6, L Long6, J Ou3, Y Liu3, X Li3, L Zhang6, Y Pan6, J Chen6, H Peng6, Q Liu6, X Luo4, W Su6, L Wu6, D Liang6, H Dai6, X Yan8, Y Feng8, B Tang8, J Li1, Z Miedzybrodzka9, J Xia6, Z Zhang6, X Luo4, X Zhang5, D St Clair10, J Zhao11, F Zhang12.
Abstract
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.Entities:
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Year: 2013 PMID： 24189344 DOI： 10.1038/mp.2013.146
Source DB: PubMed Journal: Mol Psychiatry ISSN： 1359-4184 Impact factor: 15.992